Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.
PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups
The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.
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Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups
Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases
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Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.
PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups
CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA
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Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
PMID 15890066 · PMC1142516 · BMC medical genetics · 2005 · 7 claims · 3 setups
Screening of the PITX2 coding region and exon-intron junctions in 96 dTGA patients revealed no stop or frameshift mutations.
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p53 mutations in cervical carcinogenesis--low frequency and lack of correlation with human papillomavirus status.
PMID 8142262 · PMC1968818 · British journal of cancer · 1994 · 7 claims · 6 setups
Somatic mutation in the p53 gene hotspot regions occurs infrequently in cervical carcinomas
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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1
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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups
Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A
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Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.
PMID 17264116 · PMC1851657 · Nucleic acids research · 2007 · 8 claims · 4 setups
Cruciform extrusion propensity of PATRRs depends on both length and central symmetry of the repeat.
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Isoforms of U1-70k control subunit dynamics in the human spliceosomal U1 snRNP.
PMID 19784376 · PMC2747018 · PloS one · 2009 · 8 claims · 8 setups
Native human U1 snRNP shows differential incorporation of four protein isoforms (U1-70k isoforms 1/2, Sm-B/B')
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Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.
PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups
Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.
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Has reproduction · 100
Analysis of a photosynthetic cyanobacterium rich in internal membrane systems via gradient profiling by sequencing (Grad-seq).
PMID 33793824 · PMC8136920 · The Plant cell · 2021 · 8 claims · 6 setups
Grad-seq resolves complexes with overlapping subunits, such as CpcG1-type versus CpcL-type phycobilisomes or PsaK1 versus PsaK2 photosystem I (pre)complexes, validating the approach.
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.
PMID 11207042 · PMC2363770 · British journal of cancer · 2001 · 8 claims · 4 setups
FAMA using large bifluorescent amplicons (avg 1.2 kb) with chemical cleavage of mismatch, combined with DGGE for 9 small exons, allows sensitive, unbiased scanning of the entire BRCA2 coding sequence with few amplicons (15 FAMA + 9 DGGE)
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Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups
Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency
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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups
HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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The mitochondrial genome, a growing interest inside an organelle.
PMID 18488415 · PMC2526360 · International journal of nanomedicine · 2008 · 8 claims · 8 setups
mtDNA mutations are causally linked to a wide range of mitochondrial diseases, aging, and chronic degenerative diseases
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Has reproduction · 77
Sequential structure probing of cotranscriptional RNA folding intermediates.
PMID 40450030 · PMC12126503 · Nature communications · 2025 · 8 claims · 6 setups
TECprobe-LM (linked-multipoint Transcription Elongation Complex RNA structure probing) directly measures cotranscriptional rearrangement of RNA structures by sequentially arresting RNAP at two or more template positions and chemically probing nascent RNA at each point
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The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
PMID 12381271 · PMC134458 · BMC genetics · 2002 · 7 claims · 8 setups
UNC93A maps within the minimal region of allele loss on 6q27 between D6S264 and D6S149, centromeric to D6S149
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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups
DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone